| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.241881973C>T | CA1481543 | EXO1 | c.2167C>T (p.Arg723Cys) c.304+2630C>T c.2164C>T (p.Arg722Cys) c.2047C>T (p.Arg683Cys) c.1204C>T (p.Arg402Cys) n.2752C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.241881973C>G | CA345461313 | EXO1 | c.2167C>G (p.Arg723Gly) c.304+2630C>G c.2164C>G (p.Arg722Gly) c.2047C>G (p.Arg683Gly) c.1204C>G (p.Arg402Gly) n.2752C>G | dbSNP |
| 1 | g.241881973C>A | CA345461310 | EXO1 | c.2167C>A (p.Arg723Ser) c.304+2630C>A c.2164C>A (p.Arg722Ser) c.2047C>A (p.Arg683Ser) c.1204C>A (p.Arg402Ser) n.2752C>A | dbSNP gnomAD v4 |